MELAS with diffuse degeneration of the cerebral white matter: Report of an autopsy case

Neuropathology

Volumn 30, Issue 1, 2010, Pages 56-60

  Yokoyama, Teruo ^a,b   Hasegawa, Kazuko ^b   Obama, Runko ^a   Ishihara, Tadayuki ^a   Yagishita, Saburou ^c  

^a Hakone National Hospital   (Japan)

^b SAGAMIHARA NATIONAL HOSPITAL   (Japan)

^c KANAGAWA REHABILITATION CENTER   (Japan)

Author keywords

A3243G transition; Cerebral white matter; MELAS; Metabolic abnormality; Mitochondrial angiopathy

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; AUTOPSY; BASAL GANGLION; BLOOD VESSEL WALL; BRAIN ATROPHY; BRAIN BLOOD FLOW; BRAIN CALCIFICATION; BRAIN CORTEX; BRAIN DEGENERATION; BRAIN ISCHEMIA; BRAIN NECROSIS; CASE REPORT; CELL LOSS; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CORPUS CALLOSUM; DEMENTIA; DENTATE NUCLEUS; ELECTROCARDIOGRAPHY; ELECTROENCEPHALOGRAM; FECES ANALYSIS; GLIOSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; HYALINE DEGENERATION; LABORATORY TEST; LACTIC ACIDOSIS; LIMB WEAKNESS; MALE; MARCHIAFAVA BIGNAMI DISEASE; MELAS SYNDROME; METABOLIC DISORDER; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUSCLE ATROPHY; MUSCLE BIOPSY; NERVE FIBER; NEUROPATHOLOGY; OCCIPITAL LOBE; OLIGODENDROGLIA; PATHOGENESIS; PRIORITY JOURNAL; RESPIRATORY FAILURE; THORAX RADIOGRAPHY; URINALYSIS; WHITE MATTER;

ADULT; AUTOPSY; BRAIN; FATAL OUTCOME; GLIOSIS; HUMANS; MALE; MELAS SYNDROME; NERVE DEGENERATION; NERVE FIBERS, MYELINATED; TOMOGRAPHY, X-RAY COMPUTED;

EID: 74949085121     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2009.01026.x     Document Type: Article

References (18)

1. Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 1984 16 : 481 488.
2. Goto Y, Nonaka I, Horai S. A mutation in the tRNA (Leu) (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990 348 : 651 653.
3. Goto Y, Horai S, Matsuoka T et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 1992 42 : 545 550.
4. Terauchi A, Tamagawa K, Morimatsu Y, Kobayashi M, Sano T, Yoda S. An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA. Brain Dev 1996 18 : 224 229.
5. Mizukami K, Sasaki M, Suzuki T et al. Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study. Acta Neuropathol 1992 83 : 449 452.
6. Tsuchiya K, Miyazaki H, Akabane H et al. MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: a clinical, genetic, and pathological study. Acta Neuropathol 1999 97 : 520 524.
7. Tanahashi C, Nakayama A, Yoshida M et al. MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study. Acta Neuropathol 2000 99 : 31 38.
8. Fujii T, Okuno T, Ito M et al. CT, MRI, and autopsy findings in brain of a patient with MELAS. Pediatr Neurol 1990 6 : 253 256.
9. Sparaco M, Simonati A, Cavallaro T et al. MELAS: clinical phenotype and morphological brain abnormalities. Acta Neuropathol 2003 106 : 202 212.
10. Yanagihara C, Oyama A, Tanaka M, Nakaji K, Nishimura Y. An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure. Intern Med 2001 40 : 662 665.
11. Sharfstein SR, Gordon MF, Libman RB, Malkin ES. Adult-onset MELAS presenting as herpes encephalitis. Arch Neurol 1999 56 : 241 243.
12. Prayson RA, Wang N. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome: an autopsy report. Arch Pathol Lab Med 1998 122 : 978 981.
13. Nicoll JA, Moss TH, Love S. Clinical and autopsy findings in two cases of MELAS presenting with stroke-like episodes but without clinical myopathy. Clin Neuropathol 1993 12 : 38 43.
14. Kawasaki Y, Kodayashi K, Fukutani Y et al. An autopsy case of generalized seizures, myoclonus, blindness and deafness. No To Shinkei 1990 42 : 533 538. Japanese.
15. Kishi M, Yamamura Y, Kurihara T et al. An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain. J Neurol Sci 1988 86 : 31 40.
16. Ohama E, Ohara S, Ikuta F. Mitochondrial angiopathy in cereberal blood vessels of mitochondrial encephalopathy. Acta Neuropathol 1987 74 : 226.
17. Mukoyama M, Kazui H, Sunohara N, Yoshida M, Nonaka I, Satoyoshi E. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case. J Neurol 1986 233 : 228 232.
18. Bogousslavsky J, Perentes E, Deruaz JP, Regli F. Mitochondrial myopathy and cardiomyopathy with neurodegenerative features and multiple brain infarcts. J Neurol Sci 1982 55 : 351 357.